Information on SCNX
Basic details
Name: Severe congenital neutropenia, X-linked | Acronym: SCNX
Alt. names:
Gene: WAS | MOI: X-linked recessive | Mechanism of action: Gain of Function
No. of cases in DB: 0 | First reported in: 2001
Last updated on: 2023-02-28 16:41:18 by
Description
It is characterized by neutropenia, myeloid maturation arrest, monocytopenia, variable lymphoid anomalies
Management
Description of management option has not been reviewed yet.
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.
0 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical term | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Congenital onset |
6 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Decreased CD4:CD8 ratio |
6 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Neutropenia |
6 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | repeated bacterial infections |
6 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Monocytopenia |
4 (66.7%) | 0 (0.0%) | 2 (33.3%) |
| 6 | Eczema |
0 (0.0%) | 0 (0.0%) | 6 (99.9%) |
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.
Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.